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POM (Principles of Medicine) > Chromosomal abnormalities > Flashcards

Chromosomal abnormalities Flashcards

1
Q

What is the definition of diploidy?

A

There are two sets of chromosomes, one from each parent

Chromosomes form a number of homologous pairs

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2
Q

Describe the loci pattern on homologous chromosomes?

A

Homologous chromosomes have identical sets of loci

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3
Q

What is a locus?

A

A positioned occupied in a chromosome by a particular gene/allele

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4
Q

How many pairs of autosomes are there?

A

22

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5
Q

Which proteins are associated to DNA?

A

Histone proteins

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6
Q

What is the term used to describe the DNA-histone complex?

A

Chromatin

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7
Q

How many histone molecules are wound around DNA?

A

8

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8
Q

What is the characteristic description in regards to nucleosomes during the non-division of DNA?

A

Long chains of nucleosomes

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9
Q

Which type of staining is used to form a recognizable band pattern on chromosomes?

A

Giemsa staining

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10
Q

What is an ideogram?

A

Diagrammatic representation of the karyotype that represents the homologous pairs of chromosomes present in the nucleus; pairs ordered in size, centromeres are aligned (short arm uppermost )

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11
Q

What is giemsa staining?

A

G-banding

A cytogenetic technique that enables the production of a visible karyotype by staining condensed chromosomes

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12
Q

Which stage is a giemsa stain taken?

A

Metaphase

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13
Q

What is the purpose of a trypsin solution during Giemsa staining?

A

Partially hydrolyzes the chromosomes, and subsequently stained with Giemsa

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14
Q

What do dark bands represent during Giemsa staining?

A

Adenine-thymine rich, therefore are gene poor

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15
Q

Which protein prevents chromosome unraveling?

A

Telomere

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16
Q

What is haplosufficiency?

A

This occurs whereby a single copy of a functional gene at a locus in a heterozygous combination with a variant allele is sufficient to maintain normal function/phenotype.
Heterozygote carriers of recessive alleles exhibit haplosufficiency.
Demonstrates dominant gene action within homologous pairs in diploids

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17
Q

What do imprinted genes mean?

A

Epigenetic dependent causes genes to be expressed in a parent-of-origin specific manner
Epigenetic modification on chromosomes inactivates expression of genes within the germline of the parents and are maintained through mitotic cell division in the somatic cells of an organism

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18
Q

How does histone modification result in the inactivation of genes?

A

Methylation of histones results in the gene present on the maternal and paternal homologous being inactivated -transcription is repressed

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19
Q

What is haploinsufficiency?

A

The circumstance whereby a single copy of a gene at a locus within the homologous pair is inactivated or deleted and the remaining functional copy of the gene is inadequate to produce the required gene product to preserve normal function
Both alleles are required for phenotypic expression

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20
Q

How much blood is collected as a sample for a Giemsa stain?

A

0.5ml of blood in a 5ml culture medium

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21
Q

What is added to a blood sample selected for a Giemsa stain?

A

Mitogen phytohemagglutinin

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22
Q

What is the purpose of mitogen phytohemagglutinin?

A

Stimulates lymphocyte b cells to divide

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23
Q

What is a mitogen?

A

A substance that induces or stimulates mitosis

Mitogen triggers signal transduction pathways involving mitogen-activated protein kinases (MAPK) leading to mitosis

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24
Q

How long is the culture suspended for during Giemsa staining?

A

48-72 hours

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25
Q

Why is the Giemsa culture cultured for 48-72 hours?

A

Enables subsequent divisions and establishes sufficient sample size.

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26
Q

What substance is added 48-72 hours of culturing?

A

Colcemid

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27
Q

What is the purpose of colcemid in a Giemsa stain?

A

Increases the proportion of cells at metaphase, through spindle fiber inactivation - induces cell arrest in metaphase, inhibiting the continuation of mitosis

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28
Q

How does colcemid work?

A

Induces cell arrest in metaphase, inhibiting the continuation of mitosis; depolymerizes microtubules, and limits microtubule formation, thus arresting cels and allowing cell harvest and karyotyping to be conducted

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29
Q

Why is hypotonic potassium chloride solution added to a Giemsa culture?

A

Establishes a water potential gradient, therefore, stimulating osmosis in the intracellular direction. The influx of water contributes towards cell swelling, increasing cytoplasmic volume to assist in the chromosomal movement

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30
Q

What ratios should methanol and acetic added be added to a Giemsa stain?

A

3:1

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31
Q

What enzyme is added in a Giemsa stain?

A

Trypsin, to establish recognizable banding pattern

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32
Q

What is a chromosome non-disjunction mutation?

A

This occurs when members of a homologous pair fail to separate during meiosis. This may occur when sister chromatids fail to separate during anaphase-II

Causes a gamete to be absent from a sex chromosome, associated with the age of the parent

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33
Q

What is Down’s syndrome?

A

Trisomy-21
Non-disjunction of the pair of chromosomes designated 21 leads to some gametes with 2 copies of 21, and some with none. Thus gamete fusion will result in zygote with 3 copies of chromosome-21 –> Individuals with Down’s syndrome have 47 chromosomes

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34
Q

What are the pathologies of Down’s syndrome?

A

Hypotonia, smallmouth, protruding tongue, and mental disability
Medical complications include vulnerability to infections, congenital heart defects, and hypothyroidism

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35
Q

What is Turner’s syndrome?

A

Monosomy X, therefore 45 chromosomes

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36
Q

Describe the fertility of triploid individuals?

A

Genetically infertile as pairing is incorrect

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37
Q

Where are diploid spermatogonia produced?

A

Seminiferous tubules in the testis

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38
Q

Which cells are produced at the end of meiosis 1 in spermatogenesis?

A

Secondary spermatocyte (haploid)

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39
Q

Primary spermatocytes are diploid or haploid?

A

Diploid

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40
Q

Which cells do secondary spermatocytes mature into?

A

Spermatids –> Spermatozoa

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41
Q

How many mitotic divisions do primary spermatocytes undergo?

A

23 mitotic divisions

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42
Q

Which genes are involved in point mutations resulting for Apert, Crouzon, and Pfeiffer syndrome?

A

FGFR2
FGFR3
RET

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43
Q

What is selfish spermatogonial selection?

A

Mutated spermatogonia undergo favoured mitosis in comparison to neighboring wild type cells.

44
Q

Where do diploid oogonia derive from?

A

Foetal epithelial tissue

45
Q

When is female meiosis paused?

A

Paused in utero as primary oocytes until hormone secretion from pituitary stimulates development into a secondary oocyte

46
Q

How ova are produced from one primary oocyte?

A

One

Three polar bodies are formed through completed meiosis

47
Q

What is caused by non-disjunction mutations during oogenesis?

A

Aneuploidy

48
Q

Why does aneuploidy occur within oogenesis?

A

This is attributed to the degradation of factors responsible for holding homologous chromatids together; perturbing kinetochore-microtubule interactions & contributing towards spindle disintegration

49
Q

What is the relationship between age and non-disjunction mutations?

A

The risk of maternal non-disjunction increases with age

50
Q

Which stage of meiosis does 75% trisomy 21 non-disjunction occurs in?

A

Meiosis I

51
Q

What is a Robertsonian translocation?

A

Certain type of chromosome becomes attached to anothers. This occurs in the circumstance of two acrocentric chromosomes (centromere location persists towards the chromosomal end - telomeric side); this results in relatively shorter p/q arms.

52
Q

What do unbalanced Robertsonian translocations cause?

A

Syndromes of multiple malformations and mental retardation.
21q14q (q arms of chromosome 21 associates with q arms of chromosomes 14)
3 copies of chromosome 21q causes down syndrome (trisomy 21)

53
Q

What are the three stages of PCR?

A

Denaturation
Annealation
Elongation

54
Q

What is PCR?

A

Procedure incorporated to amplify and produce significantly sample of DNA.
The automated method of making multiple copies of an extracted sample. DNA exposed to a repeating sequence of different temperatures, allowing different enzymes to work.

55
Q

What temperature is DNA subjected due during PCR?

A

95 degrees

56
Q

What occurs during the denaturation process of PCR?

A

The double-stranded of DNA molecules are separated into two strands by denaturation, thus exposing base sequences

57
Q

What is added during annelation?

A

Primers

58
Q

What are primers?

A

Required to initiate DNA synthesis, primers are short sections of DNA, consisting of a complementary base sequence to the initial segment of DNA
forms hydrogen bonds with the beginning of the DNA strand, process refers to annealing

59
Q

What temperature does annelation occur?

A

55 degrees.

60
Q

Which enzyme is added during elongation?

A

TAG DNA polymerase

61
Q

What bonds are formed by DNA polymerase?

A

Catalyzes the formation of phosphodiester bonds

62
Q

What are exons?

A

Structural genes and regions of DNA that encode for polypeptides through the synthesis of mRNA
Base sequences are expressed

63
Q

What are introns?

A

Non-coding regions

Introns are transcribed into mRNA primary transcript

64
Q

What occurs during post-transcriptional modification?

A

The primary RNA transcript include sequences of introns & exons, the introns are removed, therefore exons are spliced together to form the length of messenger RNA; translated into an amino acid sequence

65
Q

What are variable short sequence introns referred to as?

A

Variable number tandem repeats (VNTRs), these are known as microsatellites and minisatellites, number of variants comprised within a gene is uniquely specific toa in individual, enabling them to be used for personal or parietal identification

66
Q

Which areas of DNA are used for DNA profiling?

A

Introns and VNTRs

67
Q

Which enzymes are used to isolate VNTRs?

A

Restriction endonucleases

68
Q

What happens when ddNTP is inserted into synthesized DNA?

A

Will cessation of strand elongation, considering the absence of the 3-hydroxy of group, the formation of a phosphodiester bond in the adjacent nucleotide is inhibited.
Chain termination labeled with fluorescent dye
Subjected to electrophoresis to identify the base sequence

69
Q

What is quantitative fluorescence PCR?

A

Electrophoretohram derived from qualitative fluorescence PCR (QF-PCR)
Amplification of short polymorphic distinct tandem repeats (STRs) specific to chromosome 21.
primers are labeled with fluorescent dye
Trisomic pattern = 3 peaks in equal height
Two imbalanced peaks with 2:1 ratio
Diploidy = two peaks

70
Q

Which peak patterns indicate trisomy?

A

Trisomic pattern = 3 peaks in equal height

Two imbalanced peaks with 1:2 or 2:1 ratio

71
Q

Which trisomy cases lead to higher cases of miscarriage?

A

Trisomy 16 & 22

72
Q

What is the purpose of non-coding RNA?

A

Non-coding RNA base complementary pairs to specific sequences that do not encode for essential proteins; therefore this prevents transcription, as hydrogen bonds cannot form, inhibiting mRNA synthesis of a particular region

73
Q

What structure is formed from X-inactivation?

A

Barr body
X chromosome supercoils and condenses forming an inactive structure
One of the x chromosomes is coated by a length of non-coding RNA called X-inactive specific transcript.

74
Q

How is polysomy X tolerated?

A

Epigenetically modified through RNA silencing and histone methylation to inhibit transcription and expression of chromosomes to polysomy X

75
Q

what are the four types of chromosome mutations?

A

Deletions
Duplications
Inversions
Translocations

76
Q

What are deletions?

A

Involves the loss of genes

77
Q

What inversions, translocations, and duplications?

A

Lead to a reshuffling of genes, and hence can assist genetic variations between individuals, as can point gene mutations.

78
Q

What are duplications?

A

Leads to a new segment with no functional constraints, the introns can, therefore, incur multiple mutations without having a deleterious effect

79
Q

What is a reciprocal translocation?

A

Part of chromosome breaks and rejoins onto a non-homologous chromosome

80
Q

What are the issues associated with carriers of reciprocal translocations?

A

Phenotypically normal, however during prophase 1, chromosome must contort into unusual configurations to attain synapsis
This presents a reproductive risk increasing the potential for aneuploidy to proceed and chance of unbalanced gametes.

81
Q

What specific chromosomal synapsis structure is formed for reciprocal chromsome pairs?

A

Pachytene cross

82
Q

What are pericentric inversions?

A

Contribute towards insufficient central synapse, and relatively larger inversions will direct synapsis in an alternative direction, whereby telomeric ends of chromosomes are not sufficiency synapsed.

83
Q

Regions configuring with high gene content in unbalanced chromosomes will attribute ___ tolerance:

A

Less

84
Q

Why are unbalanced regions of the low gene content of high tolerance?

A

Potential effects on individuals are reduced and restricted, phenotypic changes insignificant.

85
Q

Which is more tolerated: Monosomy or trisomy?

A

Trisomy

86
Q

What happens during terminal deletions?

A

Removal of telomeres – phenotype depends on imbalance size,

87
Q

What is an interstitial deletion?

A

Associated with intermediate loss of chromosomal segments

88
Q

What are ring chromosomes?

A

Ring is unstable, mitosis results in two interlinking rings

89
Q

What happens during contiguous gene syndrome?

A

Deletion or duplication that removes multiple genes within close proximity to one another on the chromsome.

90
Q

What is a phenotype first approach?

A

Grouping children with similar development delay or dysmorphism, thereon identify patterns in genetic abnormalities
Fish probe to screen a larger number of children

91
Q

What is the disadvantage of a genotype first approach?

A

Cost of genomic analysis

92
Q

What is the advantage of a genotype first approach?

A

Ability to detect minor genetic imbalances

93
Q

What are the physical deformities with Williams syndrome (7q11.23) deletion?

A

Long philtrum, short upturned nose, arched eyebrows, supravalvular aortic stenosis
Absence of social anxiety

94
Q

What is supravalvular aortic stenosis (SVAS)?

A

A congenital heart defect that results in stenosis of the large blood vessel that carries blood from the heart into the systemic circulation (aorta)

95
Q

Which gene deletion contributes towards SVAS?

A

ELN (Elastin gene)

96
Q

What is the purpose of Array comparative genome hybridization (ACGH)?

A

The technique that permits the detection of chromosomal copy number changes, an overview of chromosomal gains and losses throughout the whole genome of the tumor

97
Q

What is tumour DNA labeled with?

A

Red fluorochrome

98
Q

What is normal DNA labeled with?

A

Green fluorochrome; hybridized to norma, human metaphase preparations

99
Q

What happens during ACGH?

A

The green and red labeled DNA fragments compete for DNA hybridization to their locus of origin on chromosomes.

100
Q

What is measured during ACGH?

A

Respective green: red fluorescence ratio measured along chromosomal axis represents loss or gain of genetic material in the tumor at that specific locus

101
Q

How is genetic variation within genes obtained during meiosis?

A

Genetic variation is introduced due to meiosis
During prophase 1, the pairs of chromosomes pair up through synapsis, resulting in bivalents, crossing over proceeds whereby chiasmata form between non-sister chromatids
Chiasmata exchange parts of non-sister chromatid introducing a combination of paternal and maternal genes
Recombinant chromosomes form

102
Q

What is non-allelic homologous recombination (NAHR)?

A

NAHR is mediated by low copy repeats occurring between two DNA lengths that have high sequence similarity, however, are not alleles
Recombination does not proceed between identical loci, LCR recombination results in looping whereby one chromatid obtains a duplicate, whereas the other receives a deletion
polymorphic parental inversions of LCRs increases risk of nahr of meiosis

103
Q

What is a read in terms of next-generation sequencing?

A

Single uninterrupted series of nucleotides representing the sequence of the template

104
Q

How can point mutations be identified in next-generation sequencing?

A

Aligning reads to the reference genome can be used to identify type of point mutations

105
Q

What are non-sense mutations?

A

Point mutations result in trinucleotide sequence that encodes for a stop codon, suppresses and creases elongation of polypeptide strand, truncating protein,

POM (Principles of Medicine) (34 decks)

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